Linked Data
ClinVar Variation Id:
66086
ClinVar RCV Id:
RCV000056321
RCV000289979
RCV001256982
RCV001263094
RCV001249505
RCV001849307
RCV002321552
RCV003925015
dbSNP Id:
rs398122394
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.111685040A>G , CM000685.2:g.111685040A>G | GRCh38 |
| NC_000023.10:g.110928268A>G , CM000685.1:g.110928268A>G | GRCh37 |
| NC_000023.9:g.110814924A>G | NCBI36 |
| NG_016238.1:g.8923A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000623622.2:c.320A>G | ENSP00000485624.2:p.Asn107Ser | |
| ENST00000699748.1:c.*289A>G | ENSP00000514558.1:n.*289A>G | |
| ENST00000394780.8:c.320A>G MANE Select | ENSP00000378260.3:p.Asn107Ser | |
| ENST00000636363.1:c.320A>G | ENSP00000490681.1:p.Asn107Ser | |
| ENST00000251943.8:c.8A>G | ENSP00000251943.4:p.Asn3Ser | |
| ENST00000371979.7:c.320A>G | ENSP00000361047.3:p.Asn107Ser | |
| ENST00000394780.7:c.320A>G | ENSP00000378260.3:p.Asn107Ser | |
| ENST00000436609.5:c.8A>G | ENSP00000392990.2:p.Asn3Ser | |
| ENST00000468657.5:c.*289A>G | ENSP00000480638.2:n.*289A>G | |
| ENST00000470971.5:c.*84A>G | ENSP00000479424.2:n.*84A>G | |
| ENST00000471924.5:c.397A>G | ENSP00000484523.2:n.397A>G | |
| ENST00000473389.5:c.320A>G | ENSP00000480711.1:p.Asn107Ser | |
| ENST00000482374.5:c.*185A>G | ENSP00000479632.1:n.*185A>G | |
| ENST00000482742.5:c.8A>G | ENSP00000477513.1:p.Asn3Ser | |
| ENST00000486353.5:c.320A>G | ENSP00000426892.2:p.Asn107Ser | |
| ENST00000487141.5:c.356A>G | ENSP00000478130.1:p.Asn119Ser | |
| ENST00000489033.5:c.*230A>G | ENSP00000482257.2:n.*230A>G | |
| ENST00000492038.5:c.*84A>G | ENSP00000479483.1:n.*84A>G | |
| ENST00000495283.5:c.*185A>G | ENSP00000427093.3:n.*185A>G | |
| ENST00000610588.4:c.86A>G | ENSP00000479731.1:p.Asn29Ser | |
| ENST00000621367.4:c.8A>G | ENSP00000481509.1:p.Asn3Ser | |
| ENST00000622986.3:c.320A>G | ENSP00000485067.1:p.Asn107Ser | |
| ENST00000622997.3:c.*289A>G | ENSP00000485420.1:n.*289A>G | |
| ENST00000623144.3:c.*289A>G | ENSP00000485279.1:n.*289A>G | |
| ENST00000623148.3:c.338A>G | ENSP00000485658.1:n.338A>G | |
| ENST00000623189.1:c.8A>G | ENSP00000485392.1:p.Asn3Ser | |
| ENST00000623255.1:c.311A>G | ENSP00000485333.1:p.Asn104Ser | |
| ENST00000624161.3:c.*84A>G | ENSP00000485181.1:n.*84A>G | |
| ENST00000624881.3:c.261A>G | ENSP00000485093.1:p.Gln87= | |
| NM_001039210.3:c.261A>G | NP_001034299.3:p.Gln87= | |
| NM_001099922.2:c.320A>G | NP_001093392.1:p.Asn107Ser | |
| NM_001168385.1:c.320A>G | NP_001161857.1:p.Asn107Ser | |
| NM_001257230.1:c.8A>G | NP_001244159.1:p.Asn3Ser | |
| NM_001257231.1:c.86A>G | NP_001244160.1:p.Asn29Ser | |
| NM_001257234.1:c.8A>G | NP_001244163.1:p.Asn3Ser | |
| NM_001257235.1:c.8A>G | NP_001244164.1:p.Asn3Ser | |
| NM_001257237.1:c.8A>G | NP_001244166.1:p.Asn3Ser | |
| NM_001257239.1:c.8A>G | NP_001244168.1:p.Asn3Ser | |
| NM_001257240.1:c.8A>G | NP_001244169.1:p.Asn3Ser | |
| NM_001257241.1:c.86A>G | NP_001244170.1:p.Asn29Ser | |
| NM_018466.4:c.320A>G | NP_060936.1:p.Asn107Ser | |
| NR_033125.1:n.317A>G | ||
| XM_005262191.3:c.8A>G | XP_005262248.1:p.Asn3Ser | |
| XM_006724693.2:c.320A>G | XP_006724756.1:p.Asn107Ser | |
| XM_006724695.2:c.320A>G | XP_006724758.1:p.Asn107Ser | |
| XM_006724697.2:c.8A>G | XP_006724760.2:p.Asn3Ser | |
| XM_006724698.2:c.8A>G | XP_006724761.2:p.Asn3Ser | |
| XM_011531028.1:c.320A>G | XP_011529330.1:p.Asn107Ser | |
| XM_011531029.1:c.320A>G | XP_011529331.1:p.Asn107Ser | |
| XM_011531030.1:c.320A>G | XP_011529332.1:p.Asn107Ser | |
| XM_011531031.1:c.8A>G | XP_011529333.1:p.Asn3Ser | |
| XM_011531032.1:c.8A>G | XP_011529334.1:p.Asn3Ser | |
| XM_011531033.1:c.8A>G | XP_011529335.1:p.Asn3Ser | |
| XR_938409.1:n.793A>G | ||
| NM_001039210.4:c.261A>G | NP_001034299.3:p.Gln87= | |
| NM_001168385.2:c.320A>G | NP_001161857.1:p.Asn107Ser | |
| NM_001257235.2:c.8A>G | NP_001244164.1:p.Asn3Ser | |
| NM_001257239.2:c.8A>G | NP_001244168.1:p.Asn3Ser | |
| NM_001257240.2:c.8A>G | NP_001244169.1:p.Asn3Ser | |
| NM_001257241.2:c.86A>G | NP_001244170.1:p.Asn29Ser | |
| NM_001324290.1:c.326A>G | NP_001311219.1:p.Asn109Ser | |
| NM_001324291.1:c.8A>G | NP_001311220.1:p.Asn3Ser | |
| NM_001324292.1:c.320A>G | NP_001311221.1:p.Asn107Ser | |
| NM_001324293.1:c.8A>G | NP_001311222.1:p.Asn3Ser | |
| NM_001324294.1:c.8A>G | NP_001311223.1:p.Asn3Ser | |
| NM_018466.5:c.320A>G | NP_060936.1:p.Asn107Ser | |
| NR_033125.2:n.317A>G | ||
| NR_136735.1:n.390A>G | ||
| NR_148693.1:n.421A>G | ||
| XM_006724693.3:c.320A>G | XP_006724756.1:p.Asn107Ser | |
| XM_006724697.3:c.8A>G | XP_006724760.2:p.Asn3Ser | |
| XM_006724698.3:c.8A>G | XP_006724761.2:p.Asn3Ser | |
| XM_011531028.2:c.320A>G | XP_011529330.1:p.Asn107Ser | |
| XM_011531030.2:c.320A>G | XP_011529332.1:p.Asn107Ser | |
| XM_011531033.3:c.8A>G | XP_011529335.1:p.Asn3Ser | |
| XM_017029846.1:c.320A>G | XP_016885335.1:p.Asn107Ser | |
| XM_017029847.1:c.320A>G | XP_016885336.1:p.Asn107Ser | |
| XM_017029848.1:c.320A>G | XP_016885337.1:p.Asn107Ser | |
| XM_017029849.1:c.320A>G | XP_016885338.1:p.Asn107Ser | |
| XM_017029850.2:c.320A>G | XP_016885339.1:p.Asn107Ser | |
| XM_017029851.1:c.-391A>G | XP_016885340.1:n.-391A>G | |
| XM_024452449.1:c.320A>G | XP_024308217.1:p.Asn107Ser | |
| XR_001755726.1:n.360A>G | ||
| XR_001755727.1:n.360A>G | ||
| XR_001755728.1:n.360A>G | ||
| NM_001039210.5:c.261A>G | NP_001034299.3:p.Gln87= | |
| NM_001099922.3:c.320A>G MANE Select | NP_001093392.1:p.Asn107Ser | |
| NM_001168385.3:c.320A>G | NP_001161857.1:p.Asn107Ser | |
| NM_001257230.2:c.8A>G | NP_001244159.1:p.Asn3Ser | |
| NM_001257235.3:c.8A>G | NP_001244164.1:p.Asn3Ser | |
| NM_001257239.3:c.8A>G | NP_001244168.1:p.Asn3Ser | |
| NM_001257240.3:c.8A>G | NP_001244169.1:p.Asn3Ser | |
| NM_001257241.3:c.86A>G | NP_001244170.1:p.Asn29Ser | |
| NM_001324290.2:c.326A>G | NP_001311219.1:p.Asn109Ser | |
| NM_001324291.2:c.8A>G | NP_001311220.1:p.Asn3Ser | |
| NM_001324292.2:c.320A>G | NP_001311221.1:p.Asn107Ser | |
| NM_001324294.2:c.8A>G | NP_001311223.1:p.Asn3Ser | |
| NM_018466.6:c.320A>G | NP_060936.1:p.Asn107Ser | |
| NR_033125.3:n.265A>G | ||
| NR_136735.2:n.390A>G | ||
| NR_148693.2:n.369A>G | ||
| NM_001257231.2:c.86A>G | NP_001244160.1:p.Asn29Ser | |
| NM_001257234.2:c.8A>G | NP_001244163.1:p.Asn3Ser | |
| NM_001257237.2:c.8A>G | NP_001244166.1:p.Asn3Ser |